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Add component for direct phenotype relations to HP #10446

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Add component for direct phenotype relations to HP #10446

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@matentzn matentzn commented Apr 7, 2024

This employs a new ROBOT plugin we are developing for processes out of scope for ROBOT

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github-actions bot commented Apr 7, 2024 •
edited

Mappings added: 8140
Subject Predicate Object
Deviation of the 2nd finger (HP:0009468) phenotype is associated with entity (UPHENO:0000003) UBERON:0003622
Abnormal adipose tissue morphology (HP:0009124) phenotype is associated with entity (UPHENO:0000003) UBERON:0001013
Bicuspid pulmonary valve (HP:0005182) phenotype is associated with entity (UPHENO:0000003) UBERON:0002146
Elevated urinary homovanillic acid (HP:0011977) phenotype is associated with entity (UPHENO:0000003) CHEBI:545959
Elevated urinary homovanillic acid (HP:0011977) phenotype is associated with entity (UPHENO:0000003) UBERON:0001088
Absent proximal phalanx of the 3rd toe (HP:0100384) phenotype is associated with entity (UPHENO:0000003) UBERON:0004334
Liver abscess (HP:0100523) phenotype is associated with entity (UPHENO:0000003) MPATH:608
Liver abscess (HP:0100523) phenotype is associated with entity (UPHENO:0000003) UBERON:0002107
Small proximal tibial epiphyses (HP:0012284) phenotype is associated with entity (UPHENO:0000003) UBERON:0008772
Short distal phalanx of toe (HP:0001857) phenotype is associated with entity (UPHENO:0000003) UBERON:0003867
Absent epiphysis of the middle phalanx of the 5th toe (HP:0100213) phenotype is associated with entity (UPHENO:0000003) UBERON:0001437
Absent epiphysis of the middle phalanx of the 5th toe (HP:0100213) phenotype is associated with entity (UPHENO:0000003) UBERON:0004327
Hypouricemia (HP:0003537) phenotype is associated with entity (UPHENO:0000003) CHEBI:27226
Hypouricemia (HP:0003537) phenotype is associated with entity (UPHENO:0000003) UBERON:0000178
Urethral fistula (HP:0010480) phenotype is associated with entity (UPHENO:0000003) MPATH:70
Urethral fistula (HP:0010480) phenotype is associated with entity (UPHENO:0000003) UBERON:0000057
Small epiphysis of the distal phalanx of the 2nd toe (HP:0100108) phenotype is associated with entity (UPHENO:0000003) UBERON:0001437
Small epiphysis of the distal phalanx of the 2nd toe (HP:0100108) phenotype is associated with entity (UPHENO:0000003) UBERON:0004316
Increased intraabdominal fat (HP:0008993) phenotype is associated with entity (UPHENO:0000003) UBERON:0000916
Increased intraabdominal fat (HP:0008993) phenotype is associated with entity (UPHENO:0000003) UBERON:0001013
Abnormal eosinophil count (HP:0020064) phenotype is associated with entity (UPHENO:0000003) CL:0000771
Abnormal eosinophil count (HP:0020064) phenotype is associated with entity (UPHENO:0000003) UBERON:0000178
Abnormal knee physiology (HP:0034670) phenotype is associated with entity (UPHENO:0000003) UBERON:0001465
Absent ossification of capital femoral epiphysis (HP:0008820) phenotype is associated with entity (UPHENO:0000003) GO:0001503
Absent ossification of capital femoral epiphysis (HP:0008820) phenotype is associated with entity (UPHENO:0000003) UBERON:0004411
Abnormal morphology of the great vessels (HP:0030962) phenotype is associated with entity (UPHENO:0000003) UBERON:0013768
Triangular shaped proximal phalanx of the 5th finger (HP:0009233) phenotype is associated with entity (UPHENO:0000003) UBERON:0004331
Increased level of N-acetylneuraminic acid in fibroblasts (HP:0410157) phenotype is associated with entity (UPHENO:0000003) CHEBI:17012
Increased level of N-acetylneuraminic acid in fibroblasts (HP:0410157) phenotype is associated with entity (UPHENO:0000003) CL:0000057
Hypoplasia of the cochlea (HP:0008586) phenotype is associated with entity (UPHENO:0000003) UBERON:0001844
Triangular shaped middle phalanx of the 2nd finger (HP:0009575) phenotype is associated with entity (UPHENO:0000003) UBERON:0004320
Upper limb muscle hypertrophy (HP:0040265) phenotype is associated with entity (UPHENO:0000003) UBERON:0004481
Poor suck (HP:0002033) phenotype is associated with entity (UPHENO:0000003) NBO:0000054
Interosseus muscle atrophy (HP:0007181) phenotype is associated with entity (UPHENO:0000003) UBERON:0001502
Underdeveloped tragus (HP:0011272) phenotype is associated with entity (UPHENO:0000003) UBERON:0010887
Increased vertebral height (HP:0004570) phenotype is associated with entity (UPHENO:0000003) UBERON:0002412
Abnormality of the stapes (HP:0008628) phenotype is associated with entity (UPHENO:0000003) UBERON:0001687
Abnormal microglia morphology (HP:0100708) phenotype is associated with entity (UPHENO:0000003) CL:0000129
Joint swelling (HP:0001386) phenotype is associated with entity (UPHENO:0000003) UBERON:0000982
Flexion contracture of the 5th toe (HP:0010345) phenotype is associated with entity (UPHENO:0000003) UBERON:0000982
Flexion contracture of the 5th toe (HP:0010345) phenotype is associated with entity (UPHENO:0000003) UBERON:0003635
Abnormal tricuspid chordae tendinae morphology (HP:0031442) phenotype is associated with entity (UPHENO:0000003) UBERON:0014852
Increased circulating IgG level (HP:0003237) phenotype is associated with entity (UPHENO:0000003) GO:0071736
Increased circulating IgG level (HP:0003237) phenotype is associated with entity (UPHENO:0000003) UBERON:0000178
Sunken cheeks (HP:0009938) phenotype is associated with entity (UPHENO:0000003) UBERON:0001567
Inappropriate laughter (HP:0000748) phenotype is associated with entity (UPHENO:0000003) NBO:0000617
Abnormal skeletal morphology (HP:0011842) phenotype is associated with entity (UPHENO:0000003) UBERON:0001434
Agenesis of incisor (HP:0006485) phenotype is associated with entity (UPHENO:0000003) UBERON:0001098
Abnormal dental pulp morphology (HP:0006479) phenotype is associated with entity (UPHENO:0000003) UBERON:0001754
Elevated circulating carnitine concentration (HP:0035030) phenotype is associated with entity (UPHENO:0000003) CHEBI:17126
Elevated circulating carnitine concentration (HP:0035030) phenotype is associated with entity (UPHENO:0000003) UBERON:0000178
Hydrocephalus (HP:0000238) phenotype is associated with entity (UPHENO:0000003) UBERON:0001359
Hydrocephalus (HP:0000238) phenotype is associated with entity (UPHENO:0000003) UBERON:0004086
Aplasia/Hypoplasia of the tarsal bones (HP:0008363) phenotype is associated with entity (UPHENO:0000003) UBERON:0001447
Agoraphobia (HP:0000756) phenotype is associated with entity (UPHENO:0000003) NBO:0000096
Small epiphysis of the proximal phalanx of the thumb (HP:0009672) phenotype is associated with entity (UPHENO:0000003) UBERON:0004338
Small epiphysis of the proximal phalanx of the thumb (HP:0009672) phenotype is associated with entity (UPHENO:0000003) UBERON:0004387
Increased level of ribitol in urine (HP:0410070) phenotype is associated with entity (UPHENO:0000003) CHEBI:15963
Increased level of ribitol in urine (HP:0410070) phenotype is associated with entity (UPHENO:0000003) UBERON:0001088
Clinodactyly of the 3rd toe (HP:0008115) phenotype is associated with entity (UPHENO:0000003) UBERON:0003633
Absence of bactericidal oxidative respiratory burst in phagocytes (HP:0002723) phenotype is associated with entity (UPHENO:0000003) GO:0045728
Abnormal renal calyx morphology (HP:0011130) phenotype is associated with entity (UPHENO:0000003) UBERON:0006517
Abnormality of the humerus (HP:0003063) phenotype is associated with entity (UPHENO:0000003) UBERON:0000976
Abnormality of the periorbital region (HP:0000606) phenotype is associated with entity (UPHENO:0000003) UBERON:0004090
Hyperthreoninuria (HP:0003296) phenotype is associated with entity (UPHENO:0000003) CHEBI:26986
Hyperthreoninuria (HP:0003296) phenotype is associated with entity (UPHENO:0000003) UBERON:0001088
Paralysis (HP:0003470) phenotype is associated with entity (UPHENO:0000003) NBO:0000032
Bronchomegaly (HP:0010777) phenotype is associated with entity (UPHENO:0000003) UBERON:0002185
Fragmentation of the epiphyses of the 2nd finger (HP:0009492) phenotype is associated with entity (UPHENO:0000003) UBERON:0003636
Fragmentation of the epiphyses of the 2nd finger (HP:0009492) phenotype is associated with entity (UPHENO:0000003) UBERON:0004387
Abnormal gallbladder physiology (HP:0012438) phenotype is associated with entity (UPHENO:0000003) UBERON:0002110
Abnormal male internal genitalia morphology (HP:0000022) phenotype is associated with entity (UPHENO:0000003) UBERON:0004054
Finger aplasia (HP:0009380) phenotype is associated with entity (UPHENO:0000003) UBERON:0002389
Abnormal T cell morphology (HP:0002843) phenotype is associated with entity (UPHENO:0000003) CL:0000084
Abnormal CSF glutamate concentration (HP:0500199) phenotype is associated with entity (UPHENO:0000003) CHEBI:18237
Abnormal CSF glutamate concentration (HP:0500199) phenotype is associated with entity (UPHENO:0000003) UBERON:0001359
Increased mitochondrial number (HP:0040014) phenotype is associated with entity (UPHENO:0000003) GO:0005739
Fragmentation of the epiphysis of the middle phalanx of the 2nd finger (HP:0009517) phenotype is associated with entity (UPHENO:0000003) UBERON:0004320
Fragmentation of the epiphysis of the middle phalanx of the 2nd finger (HP:0009517) phenotype is associated with entity (UPHENO:0000003) UBERON:0004387
Bullet-shaped distal phalanx of the hallux (HP:0010078) phenotype is associated with entity (UPHENO:0000003) UBERON:0004315
Cone-shaped epiphyses of the 2nd finger (HP:0009490) phenotype is associated with entity (UPHENO:0000003) UBERON:0003622
Cone-shaped epiphyses of the 2nd finger (HP:0009490) phenotype is associated with entity (UPHENO:0000003) UBERON:0004387
Abnormal intestinal smooth muscle morphology (HP:0030935) phenotype is associated with entity (UPHENO:0000003) UBERON:2005273
Increased proportion of exhausted T cells (HP:0031514) phenotype is associated with entity (UPHENO:0000003) CL:0011025
Increased proportion of exhausted T cells (HP:0031514) phenotype is associated with entity (UPHENO:0000003) UBERON:0000178
Increased T cell count (HP:0100828) phenotype is associated with entity (UPHENO:0000003) CL:0000084
Short proximal phalanx of the 5th finger (HP:0009226) phenotype is associated with entity (UPHENO:0000003) UBERON:0004331
Abnormality of the fontanelles or cranial sutures (HP:0000235) phenotype is associated with entity (UPHENO:0000003) UBERON:0002221
Abnormality of the fontanelles or cranial sutures (HP:0000235) phenotype is associated with entity (UPHENO:0000003) UBERON:0003685
Asymmetry of the breasts (HP:0010312) phenotype is associated with entity (UPHENO:0000003) UBERON:0000310
Facial hypertrichosis (HP:0002219) phenotype is associated with entity (UPHENO:0000003) UBERON:0010171
Pseudoepiphyses of the distal phalanges of the hand (HP:0010253) phenotype is associated with entity (UPHENO:0000003) UBERON:0003865
Abnormal labia minora morphology (HP:0012880) phenotype is associated with entity (UPHENO:0000003) UBERON:0004014
Flexion contracture (HP:0001371) phenotype is associated with entity (UPHENO:0000003) UBERON:0000043
Low alkaline phosphatase of hepatic origin (HP:0010686) phenotype is associated with entity (UPHENO:0000003) CHEBI:36080
Low alkaline phosphatase of hepatic origin (HP:0010686) phenotype is associated with entity (UPHENO:0000003) GO:0004035
Low alkaline phosphatase of hepatic origin (HP:0010686) phenotype is associated with entity (UPHENO:0000003) UBERON:0002107
Palpebral edema (HP:0100540) phenotype is associated with entity (UPHENO:0000003) UBERON:0001711
Abnormal morphology of musculature of pharynx (HP:0430015) phenotype is associated with entity (UPHENO:0000003) UBERON:0004467
Ulnar deviation of the 2nd finger (HP:0009464) phenotype is associated with entity (UPHENO:0000003) UBERON:0003622
Proximal/middle symphalangism of 3rd finger (HP:0009482) phenotype is associated with entity (UPHENO:0000003) UBERON:0004329
Abnormality of mentalis muscle (HP:3000007) phenotype is associated with entity (UPHENO:0000003) UBERON:0008596
Broad chin (HP:0011822) phenotype is associated with entity (UPHENO:0000003) UBERON:0008199
Decreased circulating iron concentration (HP:0040303) phenotype is associated with entity (UPHENO:0000003) CHEBI:18248
Decreased circulating iron concentration (HP:0040303) phenotype is associated with entity (UPHENO:0000003) UBERON:0001977
Hypoplasia of the vestibular nerve (HP:0011394) phenotype is associated with entity (UPHENO:0000003) UBERON:0003723
Supernumerary bones of the axial skeleton (HP:0009144) phenotype is associated with entity (UPHENO:0000003) UBERON:0001474
Supernumerary bones of the axial skeleton (HP:0009144) phenotype is associated with entity (UPHENO:0000003) UBERON:0002090
Limb duplication (HP:0100524) phenotype is associated with entity (UPHENO:0000003) UBERON:0010707
Asternia (HP:0010308) phenotype is associated with entity (UPHENO:0000003) UBERON:0000975
Dermal translucency (HP:0010648) phenotype is associated with entity (UPHENO:0000003) UBERON:0002097
Abnormality of facial adipose tissue (HP:0000291) phenotype is associated with entity (UPHENO:0000003) UBERON:0001013
Abnormality of facial adipose tissue (HP:0000291) phenotype is associated with entity (UPHENO:0000003) UBERON:0001456
Metatarsal diaphyseal endosteal sclerosis (HP:0008114) phenotype is associated with entity (UPHENO:0000003) MPATH:184
Metatarsal diaphyseal endosteal sclerosis (HP:0008114) phenotype is associated with entity (UPHENO:0000003) UBERON:0009859
Metatarsal diaphyseal endosteal sclerosis (HP:0008114) phenotype is associated with entity (UPHENO:0000003) UBERON:0013774
Decreased lymphocyte apoptosis (HP:0002731) phenotype is associated with entity (UPHENO:0000003) GO:0070227
Abnormality of blood circulation (HP:0011028) phenotype is associated with entity (UPHENO:0000003) GO:0008015
Fractured tarsal bone (HP:0041247) phenotype is associated with entity (UPHENO:0000003) UBERON:0001447
Abnormality of the incisor (HP:0000676) phenotype is associated with entity (UPHENO:0000003) UBERON:0001098
Abnormal tendon morphology (HP:0100261) phenotype is associated with entity (UPHENO:0000003) UBERON:0000043
Abnormal hepatic iron concentration (HP:0040134) phenotype is associated with entity (UPHENO:0000003) CHEBI:18248
Abnormal hepatic iron concentration (HP:0040134) phenotype is associated with entity (UPHENO:0000003) UBERON:0002107
Fractured cuboid bone (HP:0041150) phenotype is associated with entity (UPHENO:0000003) UBERON:0001455
Abnormal corticospinal tract morphology (HP:0002492) phenotype is associated with entity (UPHENO:0000003) UBERON:0002707
Hypoplastic nasopharyngeal adenoids (HP:0040258) phenotype is associated with entity (UPHENO:0000003) UBERON:0001732
Diaphyseal undertubulation (HP:0005019) phenotype is associated with entity (UPHENO:0000003) UBERON:0004769
Abnormal esophagus morphology (HP:0002031) phenotype is associated with entity (UPHENO:0000003) UBERON:0001043
Abnormal epididymis morphology (HP:0009714) phenotype is associated with entity (UPHENO:0000003) UBERON:0001301
Abnormality of skull size (HP:0000240) phenotype is associated with entity (UPHENO:0000003) UBERON:0003129
Decreased serum bile acid concentration (HP:0030985) phenotype is associated with entity (UPHENO:0000003) CHEBI:3098
Decreased serum bile acid concentration (HP:0030985) phenotype is associated with entity (UPHENO:0000003) UBERON:0000178
Delayed elbow epiphyseal ossification (HP:0003947) phenotype is associated with entity (UPHENO:0000003) UBERON:0001437
Delayed elbow epiphyseal ossification (HP:0003947) phenotype is associated with entity (UPHENO:0000003) UBERON:0001461
Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal (HP:0009598) phenotype is associated with entity (UPHENO:0000003) UBERON:0004328
Pseudoepiphysis of the proximal phalanx of the 5th finger (HP:0009200) phenotype is associated with entity (UPHENO:0000003) UBERON:0004331
Femoral retroversion (HP:0008796) phenotype is associated with entity (UPHENO:0000003) UBERON:0001464
Abnormal sperm morphology (HP:0012864) phenotype is associated with entity (UPHENO:0000003) CL:0000019
Fractured skull (HP:0041082) phenotype is associated with entity (UPHENO:0000003) UBERON:0003129
Atretic gallbladder (HP:0011984) phenotype is associated with entity (UPHENO:0000003) UBERON:0002110
Ocular albinism (HP:0001107) phenotype is associated with entity (UPHENO:0000003) GO:0006582
Ocular albinism (HP:0001107) phenotype is associated with entity (UPHENO:0000003) UBERON:0010230
Conical maxillary incisor (HP:0011083) phenotype is associated with entity (UPHENO:0000003) UBERON:0003450
Renal tubular epithelial necrosis (HP:0008682) phenotype is associated with entity (UPHENO:0000003) UBERON:0009773
Stippling of the epiphyses of the 2nd toe (HP:0100053) phenotype is associated with entity (UPHENO:0000003) UBERON:0001437
Stippling of the epiphyses of the 2nd toe (HP:0100053) phenotype is associated with entity (UPHENO:0000003) UBERON:0003632
Absent eyelashes (HP:0000561) phenotype is associated with entity (UPHENO:0000003) UBERON:0001702
Abnormal 4th metacarpal morphology (HP:0010012) phenotype is associated with entity (UPHENO:0000003) UBERON:0003648
Iliac arterial calcification (HP:0031304) phenotype is associated with entity (UPHENO:0000003) UBERON:0005609
Elevated intracellular cystine (HP:0003358) phenotype is associated with entity (UPHENO:0000003) CHEBI:17376
Elevated intracellular cystine (HP:0003358) phenotype is associated with entity (UPHENO:0000003) CL:0000000
Irregular epiphysis of the proximal phalanx of the 3rd finger (HP:0009351) phenotype is associated with entity (UPHENO:0000003) UBERON:0004329
Irregular epiphysis of the proximal phalanx of the 3rd finger (HP:0009351) phenotype is associated with entity (UPHENO:0000003) UBERON:0004387
Corneal scarring (HP:0000559) phenotype is associated with entity (UPHENO:0000003) UBERON:0000964
Broad distal phalanx of the 4th finger (HP:0009292) phenotype is associated with entity (UPHENO:0000003) UBERON:0004313
Sparse upper eyelashes (HP:0040050) phenotype is associated with entity (UPHENO:0000003) UBERON:0019254
Delayed patellar ossification (HP:0006454) phenotype is associated with entity (UPHENO:0000003) GO:0001503
Delayed patellar ossification (HP:0006454) phenotype is associated with entity (UPHENO:0000003) UBERON:0002446
Cuboid-shaped vertebral bodies (HP:0004634) phenotype is associated with entity (UPHENO:0000003) UBERON:0001075
Decreased activity of mitochondrial respiratory chain (HP:0008972) phenotype is associated with entity (UPHENO:0000003) GO:0005746
Abnormal circulating chemokine concentration (HP:0011115) phenotype is associated with entity (UPHENO:0000003) GO:0032602
Prominent proximal interphalangeal joints (HP:0006167) phenotype is associated with entity (UPHENO:0000003) UBERON:0009767
Fragmentation of the epiphysis of the middle phalanx of the 3rd toe (HP:0100150) phenotype is associated with entity (UPHENO:0000003) UBERON:0001437
Fragmentation of the epiphysis of the middle phalanx of the 3rd toe (HP:0100150) phenotype is associated with entity (UPHENO:0000003) UBERON:0004325
Hypotaurinemia (HP:0500182) phenotype is associated with entity (UPHENO:0000003) CHEBI:15891
Hypotaurinemia (HP:0500182) phenotype is associated with entity (UPHENO:0000003) UBERON:0000178
Decreased circulating vitamin E concentration (HP:0100513) phenotype is associated with entity (UPHENO:0000003) CHEBI:33234
Abnormal circulating adrenocorticotropin concentration (HP:0011043) phenotype is associated with entity (UPHENO:0000003) CHEBI:3892
Abnormal circulating adrenocorticotropin concentration (HP:0011043) phenotype is associated with entity (UPHENO:0000003) UBERON:0000178
Megakaryocytopenia (HP:0005548) phenotype is associated with entity (UPHENO:0000003) CL:0000556
Decreased muscle glycogen content (HP:0012270) phenotype is associated with entity (UPHENO:0000003) CHEBI:28087
Decreased muscle glycogen content (HP:0012270) phenotype is associated with entity (UPHENO:0000003) UBERON:0001630
Small epiphysis of the distal phalanx of the 3rd toe (HP:0100143) phenotype is associated with entity (UPHENO:0000003) UBERON:0001437
Small epiphysis of the distal phalanx of the 3rd toe (HP:0100143) phenotype is associated with entity (UPHENO:0000003) UBERON:0004317
Hiatus hernia (HP:0002036) phenotype is associated with entity (UPHENO:0000003) UBERON:0000945
Absent epiphysis of the middle phalanx of the 3rd toe (HP:0100146) phenotype is associated with entity (UPHENO:0000003) UBERON:0001437
Absent epiphysis of the middle phalanx of the 3rd toe (HP:0100146) phenotype is associated with entity (UPHENO:0000003) UBERON:0004325
Aplasia of the middle phalanges of the toes (HP:0100387) phenotype is associated with entity (UPHENO:0000003) UBERON:0003866
Abnormal morphology of the shoulder musculature (HP:0410169) phenotype is associated with entity (UPHENO:0000003) UBERON:0004476
Hyperglycemia (HP:0003074) phenotype is associated with entity (UPHENO:0000003) UBERON:0000178
Sclerosis of the middle phalanx of the 5th toe (HP:0100938) phenotype is associated with entity (UPHENO:0000003) MPATH:184
Sclerosis of the middle phalanx of the 5th toe (HP:0100938) phenotype is associated with entity (UPHENO:0000003) UBERON:0004327
Increased CSF methionine concentration (HP:0500210) phenotype is associated with entity (UPHENO:0000003) CHEBI:16811
Increased CSF methionine concentration (HP:0500210) phenotype is associated with entity (UPHENO:0000003) UBERON:0001359
Abnormal B cell proliferation (HP:0031380) phenotype is associated with entity (UPHENO:0000003) GO:0042100
Reduced natural killer cell count (HP:0040218) phenotype is associated with entity (UPHENO:0000003) CL:0000623
Abnormality of the epiphysis of the distal phalanx of the 3rd finger (HP:0009332) phenotype is associated with entity (UPHENO:0000003) UBERON:0004312
Abnormality of the epiphysis of the distal phalanx of the 3rd finger (HP:0009332) phenotype is associated with entity (UPHENO:0000003) UBERON:0004387
Osteolytic defects of the proximal phalanx of the 4th finger (HP:0009312) phenotype is associated with entity (UPHENO:0000003) GO:0045453
Osteolytic defects of the proximal phalanx of the 4th finger (HP:0009312) phenotype is associated with entity (UPHENO:0000003) UBERON:0004330
Adrenal gland dysgenesis (HP:0008216) phenotype is associated with entity (UPHENO:0000003) UBERON:0002369
Cone-shaped epiphysis of the proximal phalanx of the 3rd toe (HP:0100159) phenotype is associated with entity (UPHENO:0000003) UBERON:0001437
Cone-shaped epiphysis of the proximal phalanx of the 3rd toe (HP:0100159) phenotype is associated with entity (UPHENO:0000003) UBERON:0004334
Neuronal loss in the cerebral cortex (HP:0007190) phenotype is associated with entity (UPHENO:0000003) CL:0000540
Neuronal loss in the cerebral cortex (HP:0007190) phenotype is associated with entity (UPHENO:0000003) UBERON:0000956
Bullet-shaped thumb phalanx (HP:0009652) phenotype is associated with entity (UPHENO:0000003) UBERON:0003620
Abnormal CSF biopterin concentration (HP:0040207) phenotype is associated with entity (UPHENO:0000003) CHEBI:22881
Abnormal CSF biopterin concentration (HP:0040207) phenotype is associated with entity (UPHENO:0000003) UBERON:0001359
Broad skull (HP:0002682) phenotype is associated with entity (UPHENO:0000003) UBERON:0003129
Abnormal CNS myelination (HP:0011400) phenotype is associated with entity (UPHENO:0000003) GO:0022010
Cerebral atrophy (HP:0002059) phenotype is associated with entity (UPHENO:0000003) UBERON:0001893
Calvarial osteosclerosis (HP:0005450) phenotype is associated with entity (UPHENO:0000003) MPATH:184
Calvarial osteosclerosis (HP:0005450) phenotype is associated with entity (UPHENO:0000003) UBERON:0004339
Early ossification of capital femoral epiphyses (HP:0008797) phenotype is associated with entity (UPHENO:0000003) GO:0001503
Early ossification of capital femoral epiphyses (HP:0008797) phenotype is associated with entity (UPHENO:0000003) UBERON:0004412
Green teeth (HP:0011075) phenotype is associated with entity (UPHENO:0000003) UBERON:0001091
Cachexia (HP:0004326) phenotype is associated with entity (UPHENO:0000003) UBERON:0000468
Aplasia of lymphatic vessels (HP:0045006) phenotype is associated with entity (UPHENO:0000003) UBERON:0001473
Weight loss (HP:0001824) phenotype is associated with entity (UPHENO:0000003) UBERON:0000468
Abnormality of the cochlear nerve (HP:0011396) phenotype is associated with entity (UPHENO:0000003) UBERON:0004727
Aplasia/Hypoplasia affecting the uvea (HP:0008055) phenotype is associated with entity (UPHENO:0000003) UBERON:0001768
Cellular immunodeficiency (HP:0005374) phenotype is associated with entity (UPHENO:0000003) CL:0000000
Cellular immunodeficiency (HP:0005374) phenotype is associated with entity (UPHENO:0000003) GO:0006955
Increased intramuscular fat (HP:0008985) phenotype is associated with entity (UPHENO:0000003) UBERON:0001013
Increased intramuscular fat (HP:0008985) phenotype is associated with entity (UPHENO:0000003) UBERON:0001015
Irregular epiphyses of the toes (HP:0010167) phenotype is associated with entity (UPHENO:0000003) UBERON:0001437
Irregular epiphyses of the toes (HP:0010167) phenotype is associated with entity (UPHENO:0000003) UBERON:0001449
Thin ear helix (HP:0009905) phenotype is associated with entity (UPHENO:0000003) UBERON:0002488
Decreased CSF 5-methyltetrahydrofolate concentration (HP:0012446) phenotype is associated with entity (UPHENO:0000003) CHEBI:20612
Decreased CSF 5-methyltetrahydrofolate concentration (HP:0012446) phenotype is associated with entity (UPHENO:0000003) UBERON:0001359
Decreased response to growth hormone stimulation test (HP:0000824) phenotype is associated with entity (UPHENO:0000003) GO:0030252
Metacarpophalangeal thumb joint contracture (HP:0009625) phenotype is associated with entity (UPHENO:0000003) UBERON:0000043
Metacarpophalangeal thumb joint contracture (HP:0009625) phenotype is associated with entity (UPHENO:0000003) UBERON:0007735
Fractured distal phalanx of manus (HP:0041174) phenotype is associated with entity (UPHENO:0000003) UBERON:0003865
S-shaped palpebral fissures (HP:0007835) phenotype is associated with entity (UPHENO:0000003) UBERON:0001819
Abnormal metacarpophalangeal joint morphology (HP:0011911) phenotype is associated with entity (UPHENO:0000003) UBERON:0003695
Aplasia/Hypoplasia of the distal phalanx of the 4th finger (HP:0009289) phenotype is associated with entity (UPHENO:0000003) UBERON:0004313
Abnormality of the epiphyses of the 3rd finger (HP:0009320) phenotype is associated with entity (UPHENO:0000003) UBERON:0003637
Abnormality of the epiphyses of the 3rd finger (HP:0009320) phenotype is associated with entity (UPHENO:0000003) UBERON:0004387
Tarsal synostosis (HP:0008368) phenotype is associated with entity (UPHENO:0000003) UBERON:0001447
Increased serum serotonin (HP:0003144) phenotype is associated with entity (UPHENO:0000003) CHEBI:28790
Increased serum serotonin (HP:0003144) phenotype is associated with entity (UPHENO:0000003) UBERON:0001977
Deformed rib cage (HP:0000886) phenotype is associated with entity (UPHENO:0000003) UBERON:0003252
Dilatated internal auditory canal (HP:0004458) phenotype is associated with entity (UPHENO:0000003) UBERON:0011859
Abnormality of the maxillary sinus (HP:0430023) phenotype is associated with entity (UPHENO:0000003) UBERON:0001764
Increased serum zinc (HP:0011424) phenotype is associated with entity (UPHENO:0000003) CHEBI:27363
Increased serum zinc (HP:0011424) phenotype is associated with entity (UPHENO:0000003) UBERON:0001977
Abnormality of the clivus (HP:0010558) phenotype is associated with entity (UPHENO:0000003) UBERON:0004108
Cone-shaped epiphysis of the distal phalanx of the 3rd toe (HP:0100137) phenotype is associated with entity (UPHENO:0000003) UBERON:0001437
Cone-shaped epiphysis of the distal phalanx of the 3rd toe (HP:0100137) phenotype is associated with entity (UPHENO:0000003) UBERON:0004317
Triangular shaped proximal phalanx of the 4th finger (HP:0009315) phenotype is associated with entity (UPHENO:0000003) UBERON:0004330
Cryptorchidism (HP:0000028) phenotype is associated with entity (UPHENO:0000003) UBERON:0000473
Wide humeral diaphysis (HP:0003935) phenotype is associated with entity (UPHENO:0000003) UBERON:0004652
Amyotrophy of the musculature of the pelvis (HP:0003665) phenotype is associated with entity (UPHENO:0000003) UBERON:0001325
Absent epiphysis of the proximal phalanx of the 5th toe (HP:0100224) phenotype is associated with entity (UPHENO:0000003) UBERON:0001437
Absent epiphysis of the proximal phalanx of the 5th toe (HP:0100224) phenotype is associated with entity (UPHENO:0000003) UBERON:0004336
Aplasia/hypoplasia of the humerus (HP:0006507) phenotype is associated with entity (UPHENO:0000003) UBERON:0000976
Multinucleated erythroblast (HP:0034278) phenotype is associated with entity (UPHENO:0000003) CL:0000765
Uterine prolapse (HP:0000139) phenotype is associated with entity (UPHENO:0000003) UBERON:0000995
Abnormal proportion of CD4-positive, alpha-beta memory T cells (HP:0410379) phenotype is associated with entity (UPHENO:0000003) CL:0000897
Abnormal proportion of CD4-positive, alpha-beta memory T cells (HP:0410379) phenotype is associated with entity (UPHENO:0000003) UBERON:0000178
Asymmetric growth (HP:0100555) phenotype is associated with entity (UPHENO:0000003) GO:0040007
Abnormality of cytokine secretion (HP:0011113) phenotype is associated with entity (UPHENO:0000003) GO:0001816
Decreased adiponectin level (HP:0030685) phenotype is associated with entity (UPHENO:0000003) PR:Q15848
Trichodysplasia (HP:0002552) phenotype is associated with entity (UPHENO:0000003) UBERON:0001037
Abnormal position of hair whorl (HP:0010814) phenotype is associated with entity (UPHENO:0000003) UBERON:0014381
Aplasia of the parotid gland (HP:0009740) phenotype is associated with entity (UPHENO:0000003) UBERON:0001831
Hallux rigidus (HP:0025004) phenotype is associated with entity (UPHENO:0000003) UBERON:0007750
Abnormal circulating sarcosine concentration (HP:0010898) phenotype is associated with entity (UPHENO:0000003) CHEBI:15611
Abnormal circulating sarcosine concentration (HP:0010898) phenotype is associated with entity (UPHENO:0000003) UBERON:0000178
Pancreatic hyperplasia (HP:0006277) phenotype is associated with entity (UPHENO:0000003) UBERON:0001264
Increased CSF urate concentration (HP:0410199) phenotype is associated with entity (UPHENO:0000003) CHEBI:46819
Increased CSF urate concentration (HP:0410199) phenotype is associated with entity (UPHENO:0000003) UBERON:0001359
Abnormality of the distal phalanx of the 2nd toe (HP:0010356) phenotype is associated with entity (UPHENO:0000003) UBERON:0004316
Abnormal circulating glutamine concentration (HP:0010903) phenotype is associated with entity (UPHENO:0000003) CHEBI:28300
Abnormal circulating glutamine concentration (HP:0010903) phenotype is associated with entity (UPHENO:0000003) UBERON:0000178
Reticulocytopenia (HP:0001896) phenotype is associated with entity (UPHENO:0000003) CL:0000558
Elevated circulating hexacosanoic acid concentration (HP:0034298) phenotype is associated with entity (UPHENO:0000003) CHEBI:31009
Elevated circulating hexacosanoic acid concentration (HP:0034298) phenotype is associated with entity (UPHENO:0000003) UBERON:0000178
Unilateral deafness (HP:0009900) phenotype is associated with entity (UPHENO:0000003) GO:0007605
Hypertryptophanemia (HP:0500134) phenotype is associated with entity (UPHENO:0000003) CHEBI:27897
Hypertryptophanemia (HP:0500134) phenotype is associated with entity (UPHENO:0000003) UBERON:0000178
Fragmentation of the epiphyses of the middle phalanges of the hand (HP:0010261) phenotype is associated with entity (UPHENO:0000003) UBERON:0003864
Fragmentation of the epiphyses of the middle phalanges of the hand (HP:0010261) phenotype is associated with entity (UPHENO:0000003) UBERON:0004387
Abnormality of mucopolysaccharide metabolism (HP:0011020) phenotype is associated with entity (UPHENO:0000003) GO:1903510
Abnormality of the humeroradial joint (HP:0100744) phenotype is associated with entity (UPHENO:0000003) UBERON:0011111
Supernumerary testes (HP:0010470) phenotype is associated with entity (UPHENO:0000003) UBERON:0000473
Fibular bowing (HP:0010502) phenotype is associated with entity (UPHENO:0000003) UBERON:0001446
Large humeral epiphyses (HP:0003898) phenotype is associated with entity (UPHENO:0000003) UBERON:0004382
Sclerosis of 2nd toe phalanx (HP:0100926) phenotype is associated with entity (UPHENO:0000003) MPATH:184
Sclerosis of 2nd toe phalanx (HP:0100926) phenotype is associated with entity (UPHENO:0000003) UBERON:0003641
Flattened femoral head (HP:0008812) phenotype is associated with entity (UPHENO:0000003) UBERON:0006767
Decreased circulating renin level (HP:0003351) phenotype is associated with entity (UPHENO:0000003) PR:000013883
Decreased circulating renin level (HP:0003351) phenotype is associated with entity (UPHENO:0000003) UBERON:0000178
Notched hand bones (HP:0004284) phenotype is associated with entity (UPHENO:0000003) UBERON:0001442
Functional abnormality of the inner ear (HP:0011389) phenotype is associated with entity (UPHENO:0000003) UBERON:0001846
Enlarged epiphysis of the proximal phalanx of the 2nd finger (HP:0009527) phenotype is associated with entity (UPHENO:0000003) UBERON:0004328
Enlarged epiphysis of the proximal phalanx of the 2nd finger (HP:0009527) phenotype is associated with entity (UPHENO:0000003) UBERON:0004387
Hypoplasia of the maxilla (HP:0000327) phenotype is associated with entity (UPHENO:0000003) UBERON:0002397
Abnormality of the cell cycle (HP:0011018) phenotype is associated with entity (UPHENO:0000003) GO:0007049
Urethral stenosis (HP:0008661) phenotype is associated with entity (UPHENO:0000003) UBERON:0000057
Tricuspid regurgitation (HP:0005180) phenotype is associated with entity (UPHENO:0000003) UBERON:0002134
Abnormal synaptic transmission at the neuromuscular junction (HP:0003398) phenotype is associated with entity (UPHENO:0000003) GO:0031594
Down-sloping shoulders (HP:0200021) phenotype is associated with entity (UPHENO:0000003) UBERON:0001467
Deformed sella turcica (HP:0002681) phenotype is associated with entity (UPHENO:0000003) UBERON:0003689
Bullet-shaped middle toe phalanx (HP:0010196) phenotype is associated with entity (UPHENO:0000003) UBERON:0003866
Abnormal blood glucose concentration (HP:0011015) phenotype is associated with entity (UPHENO:0000003) CHEBI:17234
Abnormal blood glucose concentration (HP:0011015) phenotype is associated with entity (UPHENO:0000003) UBERON:0000178
Deviation of the 4th toe (HP:0010338) phenotype is associated with entity (UPHENO:0000003) UBERON:0003634
Peripheral amyelination (HP:0030172) phenotype is associated with entity (UPHENO:0000003) GO:0022011
Stippling of the epiphyses of the 5th finger (HP:0009391) phenotype is associated with entity (UPHENO:0000003) UBERON:0003639
Stippling of the epiphyses of the 5th finger (HP:0009391) phenotype is associated with entity (UPHENO:0000003) UBERON:0004387
White eyelashes (HP:0002227) phenotype is associated with entity (UPHENO:0000003) UBERON:0001702
Symphalangism affecting the proximal phalanx of the 2nd finger (HP:0009586) phenotype is associated with entity (UPHENO:0000003) UBERON:0004328
Increased circulating hemoglobin concentration (HP:0001900) phenotype is associated with entity (UPHENO:0000003) CHEBI:35143
Increased circulating hemoglobin concentration (HP:0001900) phenotype is associated with entity (UPHENO:0000003) UBERON:0000178
Abnormality of reproductive system physiology (HP:0000080) phenotype is associated with entity (UPHENO:0000003) UBERON:0000990
Ectopic liver (HP:0030722) phenotype is associated with entity (UPHENO:0000003) UBERON:0002107
Broad distal phalanx of the 5th finger (HP:0009240) phenotype is associated with entity (UPHENO:0000003) UBERON:0004314
Sclerosis of 4th finger phalanx (HP:0100920) phenotype is associated with entity (UPHENO:0000003) MPATH:184
Sclerosis of 4th finger phalanx (HP:0100920) phenotype is associated with entity (UPHENO:0000003) UBERON:0003638
Absent nares (HP:0100596) phenotype is associated with entity (UPHENO:0000003) UBERON:0005928
Elevated circulating hepatic transaminase concentration (HP:0002910) phenotype is associated with entity (UPHENO:0000003) GO:0008483
Elevated circulating hepatic transaminase concentration (HP:0002910) phenotype is associated with entity (UPHENO:0000003) PR:000000001
Elevated circulating hepatic transaminase concentration (HP:0002910) phenotype is associated with entity (UPHENO:0000003) UBERON:0002107
Hyperoxemia in cord blood (HP:0410212) phenotype is associated with entity (UPHENO:0000003) CHEBI:15379
Hyperoxemia in cord blood (HP:0410212) phenotype is associated with entity (UPHENO:0000003) UBERON:0012168
Bifid tongue (HP:0010297) phenotype is associated with entity (UPHENO:0000003) UBERON:0001723
Intestinal duplication (HP:0100668) phenotype is associated with entity (UPHENO:0000003) UBERON:0000160
Absent nipple (HP:0002561) phenotype is associated with entity (UPHENO:0000003) UBERON:0002030
Abnormality of the ankle (HP:0003028) phenotype is associated with entity (UPHENO:0000003) UBERON:0004454
Short long bone (HP:0003026) phenotype is associated with entity (UPHENO:0000003) UBERON:0002495
Atypical scarring of skin (HP:0000987) phenotype is associated with entity (UPHENO:0000003) UBERON:0002097
Broad distal phalanx of the 4th toe (HP:0100432) phenotype is associated with entity (UPHENO:0000003) UBERON:0004318
Conjunctival amyloidosis (HP:0010637) phenotype is associated with entity (UPHENO:0000003) MPATH:34
Conjunctival amyloidosis (HP:0010637) phenotype is associated with entity (UPHENO:0000003) UBERON:0001811
Irregular epiphysis of the middle phalanx of the 5th toe (HP:0100218) phenotype is associated with entity (UPHENO:0000003) UBERON:0001437
Irregular epiphysis of the middle phalanx of the 5th toe (HP:0100218) phenotype is associated with entity (UPHENO:0000003) UBERON:0004327
Fragmentation of the epiphysis of the distal phalanx of the hallux (HP:0010142) phenotype is associated with entity (UPHENO:0000003) UBERON:0001437
Fragmentation of the epiphysis of the distal phalanx of the hallux (HP:0010142) phenotype is associated with entity (UPHENO:0000003) UBERON:0004315
Increased proportion of CD4+CD25+ regulatory T cells (HP:0020112) phenotype is associated with entity (UPHENO:0000003) CL:0000792
Increased proportion of CD4+CD25+ regulatory T cells (HP:0020112) phenotype is associated with entity (UPHENO:0000003) UBERON:0000178
Anomaly of the upper limb diaphyses (HP:0009808) phenotype is associated with entity (UPHENO:0000003) UBERON:0004769
Anomaly of the upper limb diaphyses (HP:0009808) phenotype is associated with entity (UPHENO:0000003) UBERON:0012475
Abnormal circulating UDP glucose-4-epimerase concentration (HP:0410193) phenotype is associated with entity (UPHENO:0000003) PR:000007812
Abnormal circulating UDP glucose-4-epimerase concentration (HP:0410193) phenotype is associated with entity (UPHENO:0000003) UBERON:0001969
Arterial thrombosis (HP:0004420) phenotype is associated with entity (UPHENO:0000003) UBERON:0001637
Decreased proportion of memory B cells (HP:0030374) phenotype is associated with entity (UPHENO:0000003) CL:0000787
Decreased proportion of memory B cells (HP:0030374) phenotype is associated with entity (UPHENO:0000003) UBERON:0000178
Aplasia/Hypoplasia of the 3rd finger (HP:0009318) phenotype is associated with entity (UPHENO:0000003) UBERON:0003623
Increased circulating lactate concentration (HP:0002151) phenotype is associated with entity (UPHENO:0000003) CHEBI:24996
Increased circulating lactate concentration (HP:0002151) phenotype is associated with entity (UPHENO:0000003) UBERON:0001977
Increased serum bile acid concentration (HP:0012202) phenotype is associated with entity (UPHENO:0000003) CHEBI:3098
Increased serum bile acid concentration (HP:0012202) phenotype is associated with entity (UPHENO:0000003) UBERON:0000178
Abnormality of the epiphyses of the 2nd toe (HP:0010323) phenotype is associated with entity (UPHENO:0000003) UBERON:0001437
Abnormality of the epiphyses of the 2nd toe (HP:0010323) phenotype is associated with entity (UPHENO:0000003) UBERON:0003632
Fragmentation of the epiphysis of the distal phalanx of the 2nd toe (HP:0100104) phenotype is associated with entity (UPHENO:0000003) UBERON:0001437
Fragmentation of the epiphysis of the distal phalanx of the 2nd toe (HP:0100104) phenotype is associated with entity (UPHENO:0000003) UBERON:0004316
Glycopeptiduria (HP:0012067) phenotype is associated with entity (UPHENO:0000003) CHEBI:24396
Glycopeptiduria (HP:0012067) phenotype is associated with entity (UPHENO:0000003) UBERON:0001088
Abnormality of the ear (HP:0000598) phenotype is associated with entity (UPHENO:0000003) UBERON:0001690
Histidinuria (HP:0002927) phenotype is associated with entity (UPHENO:0000003) CHEBI:27570
Histidinuria (HP:0002927) phenotype is associated with entity (UPHENO:0000003) UBERON:0001088
Cone-shaped epiphyses of the phalanges of the hand (HP:0010230) phenotype is associated with entity (UPHENO:0000003) UBERON:0004387
Myelitis (HP:0012486) phenotype is associated with entity (UPHENO:0000003) GO:0006954
Myelitis (HP:0012486) phenotype is associated with entity (UPHENO:0000003) UBERON:0002240
Knee clonus (HP:0011449) phenotype is associated with entity (UPHENO:0000003) UBERON:0001485
Abnormal VLDL cholesterol concentration (HP:0031889) phenotype is associated with entity (UPHENO:0000003) CHEBI:47773
Abnormal VLDL cholesterol concentration (HP:0031889) phenotype is associated with entity (UPHENO:0000003) UBERON:0000178
Elevated circulating glycolate concentration (HP:0025641) phenotype is associated with entity (UPHENO:0000003) CHEBI:29805
Elevated circulating glycolate concentration (HP:0025641) phenotype is associated with entity (UPHENO:0000003) UBERON:0000178
Triangular shaped distal phalanx of the 5th finger (HP:0009245) phenotype is associated with entity (UPHENO:0000003) UBERON:0004314
Upper-limb metaphyseal irregularity (HP:0003850) phenotype is associated with entity (UPHENO:0000003) UBERON:0001438
Upper-limb metaphyseal irregularity (HP:0003850) phenotype is associated with entity (UPHENO:0000003) UBERON:0010708
Short middle phalanx of the 4th toe (HP:0100393) phenotype is associated with entity (UPHENO:0000003) UBERON:0004326
Hyperglutaminemia (HP:0003217) phenotype is associated with entity (UPHENO:0000003) CHEBI:28300
Hyperglutaminemia (HP:0003217) phenotype is associated with entity (UPHENO:0000003) UBERON:0000178
Weakness of muscles of respiration (HP:0004347) phenotype is associated with entity (UPHENO:0000003) UBERON:0014398
Abnormal coronary sinus morphology (HP:0011642) phenotype is associated with entity (UPHENO:0000003) UBERON:0005438
Nasolacrimal sac obstruction (HP:0500034) phenotype is associated with entity (UPHENO:0000003) UBERON:0001351
Abnormal toe morphology (HP:0001780) phenotype is associated with entity (UPHENO:0000003) UBERON:0001466
Short toe (HP:0001831) phenotype is associated with entity (UPHENO:0000003) UBERON:0001466
Myocarditis (HP:0012819) phenotype is associated with entity (UPHENO:0000003) GO:0006954
Myocarditis (HP:0012819) phenotype is associated with entity (UPHENO:0000003) UBERON:0002349
Hypocitraturia (HP:0012405) phenotype is associated with entity (UPHENO:0000003) CHEBI:16947
Hypocitraturia (HP:0012405) phenotype is associated with entity (UPHENO:0000003) UBERON:0001088
Broad distal phalanx of the 3rd finger (HP:0009422) phenotype is associated with entity (UPHENO:0000003) UBERON:0004312
Abnormal eating behavior (HP:0100738) phenotype is associated with entity (UPHENO:0000003) GO:0042755
Abnormal circulating IgD level (HP:0410244) phenotype is associated with entity (UPHENO:0000003) GO:0071739
Abnormal circulating IgD level (HP:0410244) phenotype is associated with entity (UPHENO:0000003) UBERON:0000178
Absent antitragus (HP:0011249) phenotype is associated with entity (UPHENO:0000003) UBERON:0016467
Abnormal fucosylation of O-linked protein glycosylation (HP:0012359) phenotype is associated with entity (UPHENO:0000003) GO:0036066
Dysgenesis of the thalamus (HP:0025099) phenotype is associated with entity (UPHENO:0000003) UBERON:0004703
Gingival bleeding (HP:0000225) phenotype is associated with entity (UPHENO:0000003) MPATH:119
Gingival bleeding (HP:0000225) phenotype is associated with entity (UPHENO:0000003) UBERON:0001828
Abnormal testis morphology (HP:0000035) phenotype is associated with entity (UPHENO:0000003) UBERON:0000473
Broad forearm bones (HP:0003971) phenotype is associated with entity (UPHENO:0000003) UBERON:0003466
Abnormal incisor morphology (HP:0011063) phenotype is associated with entity (UPHENO:0000003) UBERON:0001098
Testicular atrophy (HP:0000029) phenotype is associated with entity (UPHENO:0000003) UBERON:0000473
Optic nerve glioma (HP:0009734) phenotype is associated with entity (UPHENO:0000003) UBERON:0000941
Stippling of the epiphysis of the middle phalanx of the 5th finger (HP:0009212) phenotype is associated with entity (UPHENO:0000003) UBERON:0004323
Stippling of the epiphysis of the middle phalanx of the 5th finger (HP:0009212) phenotype is associated with entity (UPHENO:0000003) UBERON:0004387
Abnormal lower lip morphology (HP:0000178) phenotype is associated with entity (UPHENO:0000003) UBERON:0001835
Triangular epiphysis of the proximal phalanx of the 2nd finger (HP:0009534) phenotype is associated with entity (UPHENO:0000003) UBERON:0004328
Triangular epiphysis of the proximal phalanx of the 2nd finger (HP:0009534) phenotype is associated with entity (UPHENO:0000003) UBERON:0004387
Visual impairment (HP:0000505) phenotype is associated with entity (UPHENO:0000003) GO:0007601
Kyphosis (HP:0002808) phenotype is associated with entity (UPHENO:0000003) UBERON:0001130
Elevated circulating 1-methylhistidine concentration (HP:0033301) phenotype is associated with entity (UPHENO:0000003) CHEBI:70958
Elevated circulating 1-methylhistidine concentration (HP:0033301) phenotype is associated with entity (UPHENO:0000003) UBERON:0000178
Abnormal glucose-6-phosphate dehydrogenase level in tissue (HP:0410185) phenotype is associated with entity (UPHENO:0000003) PR:000007749
Abnormal glucose-6-phosphate dehydrogenase level in tissue (HP:0410185) phenotype is associated with entity (UPHENO:0000003) UBERON:0000479
Abnormality of the gallbladder (HP:0005264) phenotype is associated with entity (UPHENO:0000003) UBERON:0002110
Aplasia/hypoplasia of the proximal phalanx of the 5th toe (HP:0100377) phenotype is associated with entity (UPHENO:0000003) UBERON:0004336
Abnormal morphology of erythroid progenitor cell (HP:0025034) phenotype is associated with entity (UPHENO:0000003) CL:0000038
Hypothalamic atrophy (HP:0025058) phenotype is associated with entity (UPHENO:0000003) UBERON:0001898
Curved proximal phalanx of the thumb (HP:0009632) phenotype is associated with entity (UPHENO:0000003) UBERON:0004338
Hyperostosis cranialis interna (HP:0005890) phenotype is associated with entity (UPHENO:0000003) UBERON:0017692
Stippling of the epiphysis of the proximal phalanx of the 2nd finger (HP:0009533) phenotype is associated with entity (UPHENO:0000003) UBERON:0004328
Stippling of the epiphysis of the proximal phalanx of the 2nd finger (HP:0009533) phenotype is associated with entity (UPHENO:0000003) UBERON:0004387
Hypoplastic nipples (HP:0002557) phenotype is associated with entity (UPHENO:0000003) UBERON:0002030
Gingival calcification (HP:0025141) phenotype is associated with entity (UPHENO:0000003) UBERON:0001828
Aplasia of facial bones (HP:0040008) phenotype is associated with entity (UPHENO:0000003) UBERON:0003462
Abnormal urinary color (HP:0012086) phenotype is associated with entity (UPHENO:0000003) UBERON:0001088
Anterior radial head dislocation (HP:0005084) phenotype is associated with entity (UPHENO:0000003) UBERON:0001012
Dry nipple (HP:0031509) phenotype is associated with entity (UPHENO:0000003) UBERON:0000014
Dry nipple (HP:0031509) phenotype is associated with entity (UPHENO:0000003) UBERON:0002030
Decreased circulating UDP glucose-4-epimerase concentration (HP:0410195) phenotype is associated with entity (UPHENO:0000003) PR:000007812
Decreased circulating UDP glucose-4-epimerase concentration (HP:0410195) phenotype is associated with entity (UPHENO:0000003) UBERON:0001969
Patchy sclerosis of the proximal phalanx of the 3rd finger (HP:0009454) phenotype is associated with entity (UPHENO:0000003) MPATH:184
Patchy sclerosis of the proximal phalanx of the 3rd finger (HP:0009454) phenotype is associated with entity (UPHENO:0000003) UBERON:0004329
Cone-shaped distal radial epiphysis (HP:0004000) phenotype is associated with entity (UPHENO:0000003) UBERON:0004385
Short iliac bones (HP:0100866) phenotype is associated with entity (UPHENO:0000003) UBERON:0001273
Basal ganglia calcification (HP:0002135) phenotype is associated with entity (UPHENO:0000003) UBERON:0002420
Tapered toe (HP:0011309) phenotype is associated with entity (UPHENO:0000003) UBERON:0001466
Ivory epiphysis of the proximal phalanx of the 5th toe (HP:0100230) phenotype is associated with entity (UPHENO:0000003) UBERON:0001437
Ivory epiphysis of the proximal phalanx of the 5th toe (HP:0100230) phenotype is associated with entity (UPHENO:0000003) UBERON:0004336
Dysgenesis of the basal ganglia (HP:0025102) phenotype is associated with entity (UPHENO:0000003) UBERON:0002420
Hyperplasia of the endometrium (HP:0040298) phenotype is associated with entity (UPHENO:0000003) UBERON:0001295
Absent foot (HP:0011301) phenotype is associated with entity (UPHENO:0000003) UBERON:0001445
Aplasia/Hypoplasia of the phalanges of the 4th toe (HP:0010371) phenotype is associated with entity (UPHENO:0000003) UBERON:0003862
Abnormal blood sodium concentration (HP:0010931) phenotype is associated with entity (UPHENO:0000003) CHEBI:26708
Abnormal blood sodium concentration (HP:0010931) phenotype is associated with entity (UPHENO:0000003) UBERON:0000178
Increased proportion of naive T cells (HP:0031398) phenotype is associated with entity (UPHENO:0000003) CL:0000898
Increased proportion of naive T cells (HP:0031398) phenotype is associated with entity (UPHENO:0000003) UBERON:0000178
Decreased proportion of effector memory CD8-positive, alpha-beta T cells (HP:0410390) phenotype is associated with entity (UPHENO:0000003) CL:0000913
Decreased proportion of effector memory CD8-positive, alpha-beta T cells (HP:0410390) phenotype is associated with entity (UPHENO:0000003) UBERON:0000178
Femoral aplasia (HP:0012744) phenotype is associated with entity (UPHENO:0000003) UBERON:0000981
Short sternum (HP:0000879) phenotype is associated with entity (UPHENO:0000003) UBERON:0000975
Toenail dysplasia (HP:0100797) phenotype is associated with entity (UPHENO:0000003) UBERON:0009567
Elevated placental alkaline phosphatase (HP:0010682) phenotype is associated with entity (UPHENO:0000003) PR:000003969
Enlargement of the costochondral junction (HP:0000920) phenotype is associated with entity (UPHENO:0000003) UBERON:0002293
Abnormal urinary hypoxanthine level (HP:0040425) phenotype is associated with entity (UPHENO:0000003) CHEBI:17368
Abnormal urinary hypoxanthine level (HP:0040425) phenotype is associated with entity (UPHENO:0000003) UBERON:0001088
Decreased circulating carnosine concentration (HP:0500162) phenotype is associated with entity (UPHENO:0000003) CHEBI:15727
Decreased circulating carnosine concentration (HP:0500162) phenotype is associated with entity (UPHENO:0000003) UBERON:0000178
Monocytosis (HP:0012311) phenotype is associated with entity (UPHENO:0000003) CL:0000576
Patchy sclerosis of the distal phalanx of the 5th toe (HP:0100469) phenotype is associated with entity (UPHENO:0000003) MPATH:184
Patchy sclerosis of the distal phalanx of the 5th toe (HP:0100469) phenotype is associated with entity (UPHENO:0000003) UBERON:0004319
Patchy sclerosis of middle phalanx of finger (HP:0009848) phenotype is associated with entity (UPHENO:0000003) MPATH:184
Patchy sclerosis of middle phalanx of finger (HP:0009848) phenotype is associated with entity (UPHENO:0000003) UBERON:0003864
Delusion (HP:0000746) phenotype is associated with entity (UPHENO:0000003) NBO:0000603
Abnormal 2nd finger morphology (HP:0004100) phenotype is associated with entity (UPHENO:0000003) UBERON:0003622
Internally rotated shoulders (HP:0006659) phenotype is associated with entity (UPHENO:0000003) UBERON:0001467
Bullet-shaped middle phalanx of the 2nd toe (HP:0010406) phenotype is associated with entity (UPHENO:0000003) UBERON:0004324
Aplasia/hypoplasia affecting bones of the axial skeleton (HP:0009122) phenotype is associated with entity (UPHENO:0000003) UBERON:0002090
Small epiphysis of the middle phalanx of the 2nd toe (HP:0100119) phenotype is associated with entity (UPHENO:0000003) UBERON:0001437
Small epiphysis of the middle phalanx of the 2nd toe (HP:0100119) phenotype is associated with entity (UPHENO:0000003) UBERON:0004324
Fibular deviation of toes (HP:0100500) phenotype is associated with entity (UPHENO:0000003) UBERON:0001466
Abnormal proportion of CD8-positive T cells (HP:0031393) phenotype is associated with entity (UPHENO:0000003) CL:0000625
Abnormal proportion of CD8-positive T cells (HP:0031393) phenotype is associated with entity (UPHENO:0000003) UBERON:0000178
Absent upper eyelashes (HP:0040056) phenotype is associated with entity (UPHENO:0000003) UBERON:0019254
Thin clavicles (HP:0006645) phenotype is associated with entity (UPHENO:0000003) UBERON:0001105
Cleft upper lip (HP:0000204) phenotype is associated with entity (UPHENO:0000003) UBERON:0001834
Abnormal shoulder morphology (HP:0003043) phenotype is associated with entity (UPHENO:0000003) UBERON:0001467
Patchy sclerosis of 5th finger phalanx (HP:0009377) phenotype is associated with entity (UPHENO:0000003) MPATH:184
Patchy sclerosis of 5th finger phalanx (HP:0009377) phenotype is associated with entity (UPHENO:0000003) UBERON:0003639
Curved distal phalanx of the 3rd finger (HP:0009428) phenotype is associated with entity (UPHENO:0000003) UBERON:0004312
Abnormality of molar (HP:0011077) phenotype is associated with entity (UPHENO:0000003) UBERON:0003655
Abnormal corneal endothelium morphology (HP:0011488) phenotype is associated with entity (UPHENO:0000003) UBERON:0001985
Sagittal craniosynostosis (HP:0004442) phenotype is associated with entity (UPHENO:0000003) UBERON:0002492
Aplasia/Hypoplasia of the musculature of the thigh (HP:0009786) phenotype is associated with entity (U

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@matentzn matentzn mentioned this pull request Apr 7, 2024
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pnrobinson
pnrobinson reviewed May 20, 2024
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Can we review outside of GH? It is hard to figure out what is going on.

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@matentzn @pnrobinson